Somatic Mutation
Conditions
Brief summary
Disease and tissue aging are thought to be influenced by genetic changes, or mutations, acquired throughout life. These mutations provide clues regarding the genetic damage that occurred through the lifetime of the patient, and include mutations caused by environmental factors such as ultraviolet light from sunlight or tobacco smoke affecting the skin or internal tissues, respectively. Other mutations may occur due to errors in copying the genome as cells divide. Improvements in technologies that read the genetic code have made it possible for all or selected parts of the genetic code of a human being to be sequenced, allowing mutations (changes in the genetic code) to be detected.
Detailed description
In this research, samples of blood, skin biopsies, plucked hairs, urine, surplus tissue removed during future planned surgery, and archived samples removed in the past will be used. The order of DNA bases in the genetic code (sequencing) in the samples will help to understand how the number and type of cells with changes in their DNA is different in tissues depending on a person's age, their exposure to environmental agents, or other factors such as disease history or treatments such as radiotherapy.
Interventions
OTHERsample collection
Samples could include blood, skin biopsy, urine, plucked hair.
OTHERSeeking consent
OTHERSample Collection: Surgical
Excess surgical tissue (diseased tissue or tissue being removed for a clinical reason).
Sponsors
Cambridge University Hospitals NHS Foundation Trust
Hull University Teaching Hospitals NHS Trust
The Wellcome Sanger Institute
Study design
Observational model
CASE_CONTROL
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Controls: Healthy adults with capacity to consent * Patients: Adults with capacity to consent who have been highlighted by research nurse or clinician as potentially having genetic damage caused by environmental factors, such as UV light or tobacco smoke, or other factors, such as disease history or treatments, for example radiotherapy.
Exclusion criteria
* Adults who lack capacity to consent. * Children.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The study will measure the burden of somatic mutations in tissues and how this varies between controls and patients. | 10 years | Robust statistical methods developed at the Wellcome Trust Sanger Institute will be used to analyse and interpret human genome data. This study will use bespoke computer programmes to determine the prevalence of rare mutations in normal tissue by competing the ratio of synonymous and nonsynonymous mutations for each gene analysed. |
| The specific mutations in genes and their prevalence will be determined. | 10 years | Robust statistical methods developed at the Wellcome Trust Sanger Institute will be used to analyse and interpret human genome data. This study will use bespoke computer programmes to determine the prevalence of rare mutations in normal tissue by competing the ratio of synonymous and nonsynonymous mutations for each gene analysed. |
Countries
United Kingdom
Outcome results
None listed